Developmental Risk for Infants with Cleft Lip with or Without Cleft Palate Based on Caregiver-Proxy Reports.

OBJECTIVES: (1) Assess caregiver-reported development in infants born with cleft lip ± alveolus (CL ± A) and cleft lip and palate (CLP); (2) determine factors associated with increased developmental risk; and (3) determine consistency of developmental risk before and after surgery for cleft lip. DESIGN: Prospective, longitudinal assessment of development. Time (T) 1, prior to lip closure; T2, 2 months post lip closure. SETTING: Three US craniofacial teams and online parent support groups. PARTICIPANTS: 123 total caregivers (96% mothers); 100 at T1, 92 at T2, and 69 at both T1 and T2. MEASURE: Ages and Stages Questionnaire-3 (ASQ-3): Communication, Gross Motor, Fine Motor, Problem Solving, Personal Social Domains. RESULTS: At T1 47%; at T2 42% passed all 5 Domains; 36% of infants pass all 5 Domains at both T1 and T2. Infants with CLP were at greatest risk on Communication [B = 1.449 (CI = .149-20.079), p = .038; Odds Ratio (OR) = 4.3 (CI = .923-19.650)] and Gross Motor Domains [B = 1.753 (CI = .316-20.605), p = .034; OR = 5.8 (CI = 1.162-28.671)]. Male infants were at greatest risk on Fine Motor [B = 1.542 (CI = .495-20.005), p = .009; OR = 4.7 (CI = 1.278-17.101)] and Problem Solving Domains [B = 1.200 (CI = .118-19.708), p = .044; OR = 3.3 (CI = .896-12.285)]. CONCLUSIONS: Based on caregiver report, infants with CL ± A and CLP meet referral criteria at a high rate. Infants with CLP and male infants were at greatest risk. Regular developmental screening is recommended.

Observations by Caregivers Using the Infant with Clefts Observation Outcomes Instrument (iCOO): A Comparison of Three Versus Seven-day Daily Diaries.

OBJECTIVE: Our goal was to compare data collected from 3- and 7-day Infant with Clefts Observation Outcomes (iCOO) diaries. DESIGN: Secondary data analysis of an observational longitudinal cohort study. Caregivers completed the daily iCOO for 7 days before cleft lip surgery (T0) and for 7 days after cleft lip repair (T1). We compared 3- and 7-day diaries collected at T0 and 3- and 7-day diaries collected at T1. SETTING: United States. PARTICIPANTS: Primary caregivers of infants with cleft lip with and without cleft palate (N = 131) planning lip repair and enrolled in original iCOO study. MAIN OUTCOMES MEASURE(S): Mean differences and Pearson correlation coefficients. RESULTS: Correlation coefficients were high for global impressions (>0.90) and scaled scores (0.80-0.98). Mean differences were small across iCOO domains at T0. T1 comparisons reflected the same pattern. CONCLUSIONS: Three-day diary data is comparable to 7-day diaries for measuring caregiver observations using iCOO across T0 and T1.

Exploration of Caregiver Interrater Agreement and Test-Retest Reliability on the Infant Cleft Observer Outcomes (iCOO).

Caregiver and observer-reported measures are frequently used as outcomes for research on infants and young children who are unable to report on their own health. Our team developed the Infant with Clefts Observation Outcomes Instrument (iCOO) for infants with cleft lip with or without cleft palate. This exploratory study compared test-retest and interrater reliabilities to inform whether differences in caregiver perspective might affect the iCOO.This study is a secondary analysis comparing caregiver interrater agreement to test-retest reliability. Twenty-five pairs of caregivers completed the iCOO before surgery, 1 week later for test-retest reliability, 2 days after surgery, and 2 months after surgery. Reliability was assessed using intraclass correlations (ICCs) and t-tests were used to compare ratings between caregivers.Infants had cleft lip (28%) or cleft lip and palate (72%). Primary caregivers were predominantly mothers (92%) and secondary caregivers were predominantly fathers (80%). Test-retest reliability met psychometric standards for most items on the iCOO (81%-86% of items). Caregiver agreement on the iCOO items was lower than test-retest reliability (33%-46% of items met psychometric standards). Caregivers did not systematically differ in whether they rated infants as healthier or less healthy than the other caregiver (5%-16% of items had statistically significant differences).Caregivers used the measure consistently, but had different experiences and perceptions of their infant's health and functioning. Future studies are needed to explore mechanisms for the differences in test-retest and interrater reliability. Whenever possible, the same caregiver should provide ratings of the infant, including on the iCOO.

Caregiver Observations of Infant Well-Being Before and After Cleft Lip Surgery.

OBJECTIVE: To evaluate the sensitivity to change of daily ratings of the comfort (COMF) and behavioral/emotional health (BEH) domains of the Infants with Clefts Observation Outcomes Instrument (iCOO) at 3 time points, and to assess the association of post-surgical interventions on iCOO ratings. DESIGN: The COMF and BEH domains were completed by caregivers before (T0), immediately after (T1), and 2-months after (T2) cleft lip (CL) surgery. Analyses included descriptive statistics, correlations, t-tests, and generalized estimating equations. PARTICIPANTS: Caregivers (N = 140) of infants with CL with/without cleft palate. MAIN OUTCOME MEASURES: The COMF and BEH domain scores of the iCOO: Scale (SCALE), a summary of observable signs; and Global Impression (IMPR), a single item measuring caregivers' overall impression. RESULTS: Daily COMF and BEH SCALE and IMPR scores changed significantly during T1 (P's < 0.001) but not T0 or T2. Day 1 and 7 T0 scores were significantly higher than Day 1 and 7 T1 scores (P's <0.001 to <0.012) but similar at T2 (P's > 0.05). After CL surgery, the combined use of immobilizers and nasal stents and the use of multiple feeding methods with treatment for gastroesophageal reflux were associated with lower daily scores in COMF and BEH SCALE and IMPR (P's: 0.040 to <0.001). CONCLUSIONS: COMF and BEH iCOO scores were sensitive to daily changes in infant well-being following CL surgery. Future studies should further investigate impact of post-surgical treatments on infant well-being.

Infant with Clefts Observation Outcomes Instrument (iCOO): A New Outcome for Infants and Young Children with Orofacial Clefts.

OBJECTIVE: We evaluated the measurement properties for item and domain scores of the Infant with Clefts Observation Outcomes Instrument (iCOO). DESIGN: Cross-sectional (before lip surgery) and longitudinal study (preoperative baseline and 2 days and 2 months after lip surgery). SETTING: Three academic craniofacial centers and national online advertisements. PARTICIPANTS: Primary caregivers with an infant with cleft lip with or without cleft palate (CL ± P) scheduled to undergo primary lip repair. There were 133 primary caregivers at baseline, 115 at 2 days postsurgery, and 112 at 2 months postsurgery. MAIN OUTCOME MEASURE(S): Caregiver observation items (n = 61) and global impression of health and function items (n = 8) across eight health domains. RESULTS: Mean age at surgery was 6.0 months (range 2.7-11.8 months). Five of eight iCOO domains have scale scores, with Cronbach's alphas ranging from 0.67 to 0.87. Except for the Facial Skin and Mouth domain, iCOO scales had acceptable intraclass correlation coefficients (ICCs) ranging from 0.76 to 0.84. The internal consistency of the Global Impression items across all domains was 0.90 and had acceptable ICCs (range 0.76-0.91). Sixteen out of 20 (nonscale) items had acceptable ICCs (range 0.66-0.96). As anticipated, iCOO scores 2 days postoperatively were generally lower than baseline and scores 2 months postsurgery were consistent with baseline or higher. The iCOO took approximately 10 min to complete. CONCLUSIONS: The iCOO meets measurement standards and may be used for assessing the impact of cleft-related treatments in clinical research and care. More research is needed on its use in various treatment contexts.

Discussion on Ultrasound Diagnosis of Prenatal Cleft Lip: How does Its Accuracy Affects the Family? Prenatal Counseling for Clefts: The University of Illinois at Chicago, Craniofacial Center's Protocols and Experience.

ABSTRACT: Prenatal diagnosis of cleft lip and palate as well as other craniofacial differences is now possible with a significant level of accuracy due to sonographic and other evaluations. Thus, prospective parents have the opportunity to be informed ahead of time about these conditions making them better prepared to deal with their child after birth. The role of the plastic surgeon and other craniofacial team members in prenatal consultations is becoming increasingly important and well accepted. Therefore, any additional publication reviewing the topic from different angles and specifically from the parents' perspective is a welcome addition to our understanding of the parents' points of view and enables the team to most effectively assist them as they cope with the new diagnosis.This review describes details about our Craniofacial Center's efforts over 24 years. Our focus has always been on providing support through face-to-face multidisciplinary consultations with prospective parents as well as offering education to the public and referring sources, such as obstetricians and sonographers through direct communications, newsletters, and our website for timely referrals. As an additional service, the authors have organized a group of volunteer parents of children who are patients of the Center to share their short long-term experiences.

Caregiver Perspectives on School Participation Among Students With Craniofacial Microsomia.

IMPORTANCE: Knowledge of unmet school participation needs for students with craniofacial microsomia (CFM) can inform decisions regarding intervention support. OBJECTIVE: To compare students with and without CFM on school participation (i.e., frequency, involvement, desire for participation to change) and caregivers' perceptions of environmental support for participation in occupations. DESIGN: Cross-sectional design using secondary analyses of a subset of data. SETTING: Multisite cohort study. PARTICIPANTS: Caregivers of students with CFM (n = 120) and of students without CFM (n = 315), stratified by history of education- and health-related service use. OUTCOMES AND MEASURES: School participation and environmental support, obtained with the Participation and Environment Measure-Children and Youth. RESULTS: Significant group differences were found in frequency of school participation (effect size [ES] = -0.38, 95% confidence interval [-0.64, -0.12], p = .005), level of involvement (ES = -0.14, p = .029), and desired change (p = .001), with students with CFM exhibiting greater participation restriction than students without CFM and no history of service use. No statistically significant group differences were found in environmental support for participation in the school setting. Item-level findings showed statistically significant higher desire for participation to change in three of five school occupations (odds ratio = 1.77-2.39, p = .003-.045) for students with CFM compared with students without CFM and no history of service use. CONCLUSIONS AND RELEVANCE: The results suggest that students with CFM experience restriction in participation at school. WHAT THIS ARTICLE ADDS: Students with CFM may benefit from targeted school-based interventions to optimize their inclusion.

Barriers to Accessing Medical Care for Hispanic Individuals With Craniofacial Conditions.

In the United States, having limited access to health care has been an ongoing concern that could cause detrimental effects for minority populations, specifically the Hispanic population. Numerous barriers to accessing health care were identified for both pediatric and adult Hispanic patients who were born with craniofacial conditions. Barriers that were determined to impact Hispanic patients with craniofacial conditions from receiving medical and health services included language and communication, patient-health care provider relationships, socioeconomic status and finances, insurance status, timely access to appointments, citizenship and immigration status, and lack of family and social support. Interventions for these barriers were also proposed to increase support for Hispanic patients. Lamentably, there is scant research that investigates how these barriers affect this special population, despite the limitations that they have in their ability to access health care. In addition, these barriers to treatment have dire consequences for individuals with craniofacial conditions. The findings and proposed interventions discussed in this review article provide measures to minimize these barriers and define ways to benefit Hispanic patients with craniofacial conditions.

Development of an Outcome Measure of Observable Signs of Health and Well-Being in Infants With Orofacial Clefts.

OBJECTIVE: To develop an outcomes instrument that assesses observations that can be reliably reported by caregivers and can be used to assess health of infants with a cleft lip or cleft lip and cleft palate (CL±P) and impacts of treatments. DESIGN: Cross-sectional, mixed methods study. SETTING: Caregivers and health-care providers were recruited from 3 academic craniofacial centers and national advertisements. Most interviews were conducted by telephone, and surveys were completed online. PARTICIPANTS: Caregivers had a child less than 3 years of age with CL±P and spoke either English or Spanish. Health-care providers were members of a cleft team. Caregivers (n = 492) and health-care professionals (n = 75) participated in at least one component of this study. MAIN OUTCOME MEASURE(S): Caregivers and health-care providers participated in tasks related to instrument development: concept elicitation for items within relevant health domains, prioritization of items, and item review. RESULTS: We identified 295 observations of infant well-being across 9 health areas. Research staff and specialists evaluated items for clarity, specificity to CL±P, and responsiveness to treatment. Caregivers and health-care providers rated the resulting list of 104 observations and developed the final instrument of 65 items. CONCLUSIONS: In this phase of development of the Infant with Clefts Observation Outcomes (iCOO) instrument, items were developed to collect caregiver observations about indicators of children's health and well-being across multiple domains allowing for psychometric testing, sensitivity to changes associated with treatment, and documentation of the effects of treatment.

Barriers to Accessing Medical Care for Hispanic Individuals With Craniofacial Conditions.

In the United States, having limited access to health care has been an ongoing concern that could cause detrimental effects for minority populations, specifically the Hispanic population. Numerous barriers to accessing health care were identified for both pediatric and adult Hispanic patients who were born with craniofacial conditions. Barriers that were determined to impact Hispanic patients with craniofacial conditions from receiving medical and health services included language and communication, patient-health care provider relationships, socioeconomic status and finances, insurance status, timely access to appointments, citizenship and immigration status, and lack of family and social support. Interventions for these barriers were also proposed to increase support for Hispanic patients. Lamentably, there is scant research that investigates how these barriers affect this special population, despite the limitations that they have in their ability to access health care. In addition, these barriers to treatment have dire consequences for individuals with craniofacial conditions. The findings and proposed interventions discussed in this review article provide measures to minimize these barriers and define ways to benefit Hispanic patients with craniofacial conditions.

Child and Caregiver Perspectives Towards Facial Appearance in Children With Microtia With or Without Craniofacial Microsomia Using a Newly Developed Likert Scale.

Craniofacial microsomia (CFM) is the second most common congenital craniofacial malformation characterized by asymmetric malformation of the ear and mandible. Numerous studies have reported the importance of child perspective and psychosocial issues in patients with craniofacial abnormalities. However, clinical tools to evaluate child and caregiver perspectives in patients with microtia with or without CFM have been limited or not reported in the literature. The authors aimed to (1) To develop a tool for measuring patient and caregiver evaluation of facial appearance as it relates to microtia and craniofacial microsomia (CFM). (2) To utilize this tool in comparing children, between 7 and 20 years of age, and caregiver perspectives towards facial appearance in patients with microtia with or without craniofacial microsomia (CFM). A prospective single center study conducted from 2016 to 2017 using newly developed 13-item (Microtia) and 27-item (CFM) 5-point Likert scale Likert scale questionnaires given to patients with CFM and caregivers at a craniofacial center. Aged 7 to 20 (N = 25) and their caregivers. A total of 25 patients (13 male, 12 female; mean age at time of survey 13.2 ±â€Š3.7) met criteria for the study. The Likert scale developed and presented in this study may be a useful tool for clinical use in investigating patient and caregiver perspectives for planning surgical timeline. Based on our pilot data it is important to incorporate all voices into decision-making on timing.

Delay in Cleft Lip and Palate Surgical Repair: An Institutional Review on Cleft Health Disparities in an Urban Population.

Access to specialized medical care is critical to decrease complications and minimize long-term morbidity, yet racial disparities in cleft surgery persist as time to initial reconstruction remains delayed among minority patients. Research has demonstrated an average 3-week delay in surgery for minority patients nationally. A retrospective chart review of patient demographics, visit timing, and surgical history was performed for patients who underwent primary cleft lip with or without palate (CL + P) reconstruction between 2002 and 2016 at an urban craniofacial center. Of the 89 children who underwent surgery, 87% were ethnic minorities (58% Hispanic, 25% African-American, 4% Asian/Other). Caucasian children were the earliest to receive CL (3.5 months) and CP (13-months) repair. Minority children trended toward a delay in CL repair, with surgery for African-Americans at 5-months (P = 0.06) and Hispanics at 4.8-months (P = 0.07). Time from first visit to CL surgery showed significant delays for minority, non-English speaking, and public insurance patients; however, for CP repair, male children were delayed from first visit to surgery compared to females (P = 0.03). While there was no statistical difference in age at CL or CP surgical repair among our racial/ethnic cohorts, there were significant racial/ethnic differences in timing spent in the preoperative period for CL. However, racial/ethnic differences decreased as the patients spent more time within the healthcare system. Thus, established, interdisciplinary cleft/craniofacial centers well versed in minority patients can minimize the complex social and cultural factors that contribute to delays in cleft care.

Parent Observations of the Health Status of Infants With Clefts of the Lip: Results From Qualitative Interviews.

OBJECTIVE: To explore, using semistructured qualitative interviews, parent observations of their infant's health as they relate to having a cleft lip or cleft lip and cleft palate (CL±P) and/or associated treatments. DESIGN: Cross-sectional, qualitative study across 3 sites. SETTING: Parents were recruited from 3 academic craniofacial centers. Most interviews were conducted over the telephone, audio-recorded, and transcribed. PARTICIPANTS: Forty-one parents (31 English-, 10 Spanish-speaking) were interviewed. Parents had a child ages 1 to 35 months diagnosed with CL±P. MAIN OUTCOME MEASURE(S): Twelve domains reflecting infant health and well-being, likely affected by a CL±P and/or associated treatments, were identified from clinical experience and literature review. Study investigators conducted semistructured interviews based on 12 identified domains. After transcripts of the interviews were reviewed, our multidisciplinary team selected illustrative quotes from each domain that reflected consistent observations made by parents. RESULTS: Parents' responses covered all 12 domains. Specifically, parents discussed the domain of feeding most frequently, followed by observations about sleep, development, comfort, breathing, and vocalization. CONCLUSIONS: We found that parents of infants with clefts provided caregiver-centered language useful in describing their daily observations. No additional domains of infant health were noted by parents. We will use these observations and language to develop and validate a parent-reported observation diary that can augment assessments of the impacts of interventions on infants who are receiving care for CL±P.

Advocating for the Child: The Role of Pediatric Psychology for Children With Cleft Lip and/or Palate.

Children with cleft lip and/or palate (CL ± P) undergo several surgical procedures from birth to adulthood to achieve functional, aesthetic, and psychosocial normalcy. Although children with CL ± P have normal physical development apart from their CL ± P, they face increased risk for emotional, social, behavioral, and academic concerns. In this article, we discuss how the psychology team helps support children with CL ± P and their families. We also explore how the child's overall functioning is evaluated through interview and assessment tools. Throughout, we validate the need for specialized considerations related to having a CL ± P such as increased risk for peer victimization as well as readiness for medical and surgical procedures. By examining the psychology team's role across a child's lifespan, we hope to show that our goal is to advocate for the child and to encompass the child's voice throughout the treatment process.

Identification of Novel Congenital Heart Disease Candidate Genes Using Chromosome Microarray.

While the majority of patients have isolated heart disease, congenital heart disease (CHD) may be associated with other congenital anomalies or syndromes. Our institution utilizes chromosomal microarray (CMA) to identify chromosomal abnormalities, specifically copy number variations (CNVs). While CNVs have been associated with CHD, their direct impact on cardiac development remains unclear. This study sought to identify potential novel CHD candidate genes by comparing CNVs present in our institution's CHD population with those already recognized in the literature. A list of candidate genes was compiled from recent medical literature that utilized CMA. Records from neonatal cases at our institution over 10 years were reviewed. Genes identified from CMAs were compared with those reported in the literature and cross-referenced with the Online Mendelian Inheritance in Man catalog. We identified 375 CNVs reported in patients with CHD. At our institution between 2005 and 2015, 307 neonates with CHD had CMA. Of these, 77 patients (25%) had CNVs containing 832 unique candidate genes. 49 patients (16%) had isolated CHD with 353 candidate genes expressed within the CNVs, many of which were previously reported. However, there were 16 unique candidate genes identified that have been expressed with heart structure of the mouse knock-out models. Our findings demonstrate a high incidence of abnormal genes identified by CMA in CHD patients, including many CNVs of "unknown clinical significance". We conclude that a portion of these CNVs (including 16 genes expressed in the heart of the mouse knock-out models) could be candidate genes involved in CHD pathogenesis.

Parent-Reported Family Functioning Among Children With Cleft Lip/Palate.

OBJECTIVE: To examine family functioning related to sociodemographic and clinical characteristics in youth with cleft lip and/or palate (CL/P). DESIGN: Cross-sectional, multi-site investigation. SETTING: Six U.S. cleft centers. PATIENTS/PARTICIPANTS: A diverse sample of 1200 children with CL/P and their parents. MAIN OUTCOME MEASURE: Parents completed the Family Environment Scale (FES), which assesses three domains of family functioning: cohesion (or closeness), expressiveness (open expression of feelings), and conflict. Demographic and clinical characteristics were also assessed including race, ethnicity, type of insurance, and surgical recommendations. RESULTS: The FES scores for families seeking team evaluations for their youth with CL/P (mean age = 11.6 years) fall within the average range compared with normative samples. Families receiving surgical recommendations for their youth also had FES scores in the average range, yet families of children recommended for functional surgery reported greater cohesion, expressiveness, and less conflict compared with those recommended for aesthetic surgery (P < .05). For cohesion and expressiveness, significant main effects for race (P = .012, P < .0001, respectively) and ethnicity (P = .004, P < .0001, respectively) were found but not for their interaction. No significant differences were found on the conflict domain. Families with private insurance reported significantly greater cohesion (P < .001) and expressiveness (P < .001) than did families with public insurance. CONCLUSIONS: Family functioning across domains was in the average range. However, observed differences by race, ethnicity, type of insurance, and surgical recommendation may warrant consideration in clinical management for patients and families.

Mothers' and fathers' reports of stress in families of infants with and without single-suture craniosynostosis.

OBJECTIVE: To compare relative levels of stress reported by mothers and fathers in families containing infants with and without single-suture craniosynostosis. DESIGN: Case-control study. PARTICIPANTS: Mothers and fathers of 246 infants with recently diagnosed single-suture craniosynostosis and 253 frequency-matched control infants completed the Parenting Stress Index just prior to their infant's cranioplastic surgery. Family demographic information and mothers' ratings of the severity of their child's single-suture craniosynostosis were obtained. RESULTS: Average Parent Domain scores for parents of infants with single-suture craniosynostosis differed little from those reported by parents of control infants; however, Child Domain scores among parents of infants with single-suture craniosynostosis were higher on some subscales, primarily related to unexpected infant health and appearance issues. In both groups, fathers reported higher Child Domain stress than mothers, and mothers reported higher Parent Domain stress than fathers. Case mothers reported greater stress if they perceived their child's condition as more noticeable to others. CONCLUSIONS: Prior to cases' cranioplastic surgery, parents of children with and without single-suture craniosynostosis reported similar levels of stress in relation to their parenting roles and the behavioral characteristics of their infants. Visibility of condition should be considered a risk for increased stress for mothers of infants with single-suture craniosynostosis. Stress differences between mothers and fathers were far more discernible than those associated with the presence or absence of single-suture craniosynostosis.